Linked Data
ClinVar Variation Id:
1491142
dbSNP Id:
rs1397533476
gnomAD v2:
11-67254615-A-C
gnomAD v4:
11-67487144-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67487144A>C , CM000673.2:g.67487144A>C | GRCh38 |
| NC_000011.9:g.67254615A>C , CM000673.1:g.67254615A>C | GRCh37 |
| NC_000011.8:g.67011191A>C | NCBI36 |
| NG_008969.1:g.9111A>C , LRG_460:g.9111A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525341.2:c.215A>C | ||
| ENST00000528641.7:c.238A>C | ENSP00000434982.3:p.Met80Leu | |
| ENST00000529797.2:n.168A>C | ||
| ENST00000682324.1:c.238A>C | ENSP00000508017.1:p.Met80Leu | |
| ENST00000682659.1:c.100-2894A>C | ENSP00000507351.1:n.100-2894A>C | |
| ENST00000682699.1:c.238A>C | ENSP00000507935.1:p.Met80Leu | |
| ENST00000683237.1:c.238A>C | ENSP00000507343.1:p.Met80Leu | |
| ENST00000683856.1:c.61A>C | ENSP00000507979.1:p.Met21Leu | |
| ENST00000684006.1:c.238A>C | ENSP00000507269.1:p.Met80Leu | |
| ENST00000684657.1:c.100-2123A>C | ENSP00000507961.1:n.100-2123A>C | |
| ENST00000279146.8:c.238A>C MANE Select | ENSP00000279146.3:p.Met80Leu | |
| ENST00000279146.7:c.238A>C | ENSP00000279146.3:p.Met80Leu | |
| ENST00000528641.6:c.238A>C | ENSP00000434982.2:p.Met80Leu | |
| ENST00000529797.1:n.348A>C | ||
| NM_001302959.1:c.61A>C | NP_001289888.1:p.Met21Leu | |
| NM_001302960.1:c.238A>C | NP_001289889.1:p.Met80Leu | |
| NM_003977.3:c.238A>C | NP_003968.3:p.Met80Leu | |
| XM_024448761.1:c.238A>C | XP_024304529.1:p.Met80Leu | |
| NM_003977.4:c.238A>C MANE Select | NP_003968.3:p.Met80Leu | |
| NM_001302960.2:c.238A>C | NP_001289889.1:p.Met80Leu | |
| NM_001302959.2:c.61A>C | NP_001289888.1:p.Met21Leu |